المؤلفون: François Labarthe, D. Planchenault, L. Cosson, Elie Saliba, Alain Chantepie, A.-G. Bah, D. Rugemintwaza, D. Martin-Coignard

المصدر: Archives de Pédiatrie. 21:206-210

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5a2dc6be2acd90e40bbb906058fd31f
https://doi.org/10.1016/j.arcped.2013.11.016

المؤلفون: B. Leheup, V. David, J. Kaplan, L. Pasquier, D. Jonas, A. Laquerrière, C. Bendavid, E. Baselga, J.B. Mulliken, Augusto Rojas-Martinez, O. Patat, Juliana F. Mazzeu, L.M. Boon, R.M. Candido Sandri, I. Gicquel, A. Bygum, Thomas Haaf, M. Vikkula, Lizeth Martínez-Jacobo, Martin Poot, E. Burgdörfer, J. Tantau, C. Dubourg, N. Corsten-Janssen, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, H. Dornelles-Wawruk, Ana Cristina Victorino Krepischi, L.A. Ribeiro-Bicudo, C. van der Vleuten, M. Beri, P. Loget, P. Marcorelles, O. Bartsch, J.E. Chernos, S. Jaillard, S. Odent, C. Saucedo-Carrasco, A. Richieri-Costa, Carlos Córdova-Fletes, L. Ratié, Carla Rosenberg, F. Démurger, A. Ghalamkarpour, T. Dijkhuizen, C. Evain, J.P. van Tintelen, C.M.A. van Ravenswaaij-Arts, N. Chassaing, A. Irrthum, Aline Pic-Taylor, H.L. Nguyen, C. de Campos Legnaro, Rocio Ortiz-Lopez, M.S. Connelly, P. Brouillard, J.P.H. Wyse, C. Quelin, Fernando Rivas, A. Mendola, E. Fastré, U. Zechner, Iris Ferrari, D. Martin-Coignard, M.J. Schlögel, C. Fagerberg, H.P.N. Safatle, V. Dupé, D. Weise, R.B. Lowry, S. Mercier, I. Quere, B.F. Gamba, J. Lespinasse, M. Korenkov

المصدر: Molecular Syndromology. 4:I-IV

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::39e58559fdb767099a266176e06a754a
https://doi.org/10.1159/000347016

المؤلفون: P. Noris, N. Schlegel, C. Klersy, P. G. Heller, E. Civaschi, N. Pujol Moix, F. Fabris, R. Favier, P. Gresele, V. Latger Cannard, A. Cuker, P. Nurden, A. Greinacher, E. De Candia, A. Pecci, M. Hurtaud Roux, A. C. Glembotsky, E. Muñiz Diaz, M. L. Randi, N. Trillot, L. Bury, T. Lecompte, C. Marconi, A. Savoia, C. L. Balduini, S. Bayart, A. Bauters, S. Benabdallah Guedira, F. Boehlen, J. Borg, R. Bottega, J. Bussel, D. De Rocco, E. de Maistre, M. Faleschini, E. Falcinelli, S. Ferrari, A. Ferster, T. Fierro, D. Fleury, P. Fontana, C. James, F. Lanza, V. L. C. Duchez, G. Loffredo, P. Magini, D. Martin Coignard, F. Menard, S. Mercier, A. Mezzasoma, P. Minuz, I. Nichele, L. D. Notarangelo, T. Pippucci, G. M. Podda, C. Pouymayou, A. Rigouzzo, B. Royer, P. Sie, V. Siguret, C. Trichet, A. Tucci, B. Saposnik, D. Veneri, European Hematology Association – Scientific Working Group on Thrombocytopenias, Platelet Function Disorders, M. Cattaneo

المساهمون: P. Nori, N. Schlegel, C. Klersy, P.G. Heller, E. Civaschi, N. Pujol-Moix, F. Fabri, R. Favier, P. Gresele, V. Latger-Cannard, A. Cuker, P. Nurden, A. Greinacher, M. Cattaneo, E. De Candia, A. Pecci, M. Hurtaud-Roux, A.C. Glembotsky, E. Muñiz-Diaz, M.L. Randi, N. Trillot, L. Bury, T. Lecompte, C. Marconi, A. Savoia, C.L. Balduini, S. Bayart, A. Bauter, S. Benabdallah-Guedira, F. Boehlen, J. Borg, R. Bottega, J. Bussel, D. De Rocco, E. de Maistre, M. Faleschini, E. Falcinelli, S. Ferrari, A. Ferster, T. Fierro, D. Fleury, P. Fontana, C. Jame, F. Lanza, V.L.C. Duchez, G. Loffredo, P. Magini, D. Martin-Coignard, F. Menard, S. Mercier, A. Mezzasoma, P. Minuz, I. Nichele, L.D. Notarangelo, T. Pippucci, G.M. Podda, C. Pouymayou, A. Rigouzzo, B. Royer, P. Sie, V. Siguret, C. Trichet, A. Tucci, B. Saposnik, D. Veneri, European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders

مصطلحات موضوعية: Bernard-Soulier-syndrome, management, hemorrhage, morbidity, guideline, familie, trends, Settore MED/09 - Medicina Interna

Relation: info:eu-repo/semantics/altIdentifier/pmid/24763399; info:eu-repo/semantics/altIdentifier/wos/WOS:000342834300024; volume:99; issue:8; firstpage:1387; lastpage:1394; numberofpages:8; journal:HAEMATOLOGICA; http://hdl.handle.net/2434/257112; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84905198554

الاتاحة: http://hdl.handle.net/2434/257112
https://doi.org/10.3324/haematol.2014.105924

المؤلفون: D, Planchenault, D, Martin-Coignard, D, Rugemintwaza, A-G, Bah, L, Cosson, F, Labarthe, A, Chantepie, E, Saliba

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 21(2)

مصطلحات موضوعية: Blood Glucose, Heart Failure, Donohue Syndrome, Genetic Carrier Screening, DNA Mutational Analysis, Homozygote, Infant, Newborn, Shock, Cardiogenic, Exons, Cardiomyopathy, Hypertrophic, Introns, Receptor, Insulin, Consanguinity, Fatal Outcome, Antigens, CD, Echocardiography, Humans, Female, Chromosomes, Human, Pair 19, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dfa399f4d63ee1d0b9af3f319c344153
https://pubmed.ncbi.nlm.nih.gov/24388461

المؤلفون: V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, M C Vincent, L Pasquier, S Odent, V Cormier-Daire, B Gener, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, D Heron, H Journel, E Raffo, J Vigneron, S Lyonnet, V Murday, D Gubser-Mercati, B Funalot, L Brueton, J Sanchez del Polo, E Muñoz, A R Gennery, M Salih, M Noruzina, K Prescott, L Ramos, Z Stark, K Fieggen, B Chabrol, P Sarda, P Edery, A Bloch-Zupan, F Fawcett, D Pham, J M Egly, Alan Lehmann, A Sarasin, H Dollfus

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23355749.v1; https://figshare.com/articles/journal_contribution/Mutation_Update_for_the_CSB_ERCC6_and_CSA_ERCC8_Genes_Involved_in_Cockayne_Syndrome/23355749

الاتاحة: https://figshare.com/articles/journal_contribution/Mutation_Update_for_the_CSB_ERCC6_and_CSA_ERCC8_Genes_Involved_in_Cockayne_Syndrome/23355749

المؤلفون: S. Jaillard, S. Drunat, C. Bendavid, A. Aboura, A. Etcheverry, H. Journel, A. Delahaye, L. Pasquier, D. Bonneau, A. Toutain, L. Burglen, A. Guichet, E. Pipiras, B. Gilbert-Dussardier, B. Benzacken, D. Martin-Coignard, C. Henry, A. David, J. Lucas, J. Mosser, V. David, S. Odent, A. Verloes, C. Dubourg

المصدر: European Journal Of Medical Genetics

مصطلحات موضوعية: Chromosome Mapping, Comparative Genomic Hybridization, Facies, Female, France, Gene Dosage, Genetic Variation, Genome, Human, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Male, Oligonucleotide Array Sequence Analysis, Oligonucleotides/genetics, Reproducibility of Results, Syndrome

Relation: http://okina.univ-angers.fr/publications/ua8276

الاتاحة: http://okina.univ-angers.fr/publications/ua8276
https://doi.org/10.1016/j.ejmg.2009.10.002

المؤلفون: D. Martin-Coignard, O. Frachet, G. Seret, A. Duveau, S. Sidibe, J.P. Coindre

المصدر: Néphrologie & Thérapeutique. 10:359-360

مصطلحات موضوعية: Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae021430960fda32e000109c97a536a1
https://doi.org/10.1016/j.nephro.2014.07.210

المؤلفون: L Jonard, D Martin-Coignard, A. Barbaud, A.-C. Bursztejn, J.-L. Schmutz, Bernard Cribier

المصدر: Annales de Dermatologie et de Vénéréologie. 140:S569-S570

مصطلحات موضوعية: Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b61d5587762af88fe64b335d5d29787f
https://doi.org/10.1016/j.annder.2013.09.469

المؤلفون: A. Laquerrière, F. Démurger, I. Gicquel, E. Baselga, O. Patat, C.M.A. van Ravenswaaij-Arts, M. Vikkula, L. Pasquier, D. Weise, L. Ratié, M. Korenkov, Lizeth Martínez-Jacobo, J.B. Mulliken, C. Evain, N. Chassaing, R.M. Candido Sandri, Aline Pic-Taylor, I. Ferrari, B. Leheup, N. Corsten-Janssen, V. David, P. Marcorelles, C. Dubourg, C. Bendavid, P. Brouillard, A. Richieri-Costa, M. Poot, H.L. Nguyen, R. Ortiz-López, D. Jonas, D. Martin-Coignard, Druck Reinhardt Druck Basel, B.F. Gamba, J.F. Mazzeu, I. Quere, L.M. Boon, A.C.V. Krepischi, L.A. Ribeiro-Bicudo, M. Beri, H.P.N. Safatle, J.E. Chernos, Satz Mengensatzproduktion, H. Dornelles-Wawruk, R.B. Lowry, J. Lespinasse, T. Dijkhuizen, C. Saucedo-Carrasco, P. Loget, J. Kaplan, C. van der Vleuten, E. Burgdörfer, A. Irrthum, M.J. Schlögel, S. Jaillard, A. Ghalamkarpour, S. Mercier, E. Fastré, A. Rojas-Martínez, C. Fagerberg, C. Quelin, J.P.H. Wyse, M.S. Connelly, A. Mendola, J.P. van Tintelen, V. Dupé, U. Zechner, C. Rosenberg, Carlos Córdova-Fletes, Thomas Haaf, O. Bartsch, S. Odent, F. Rivas, C. de Campos Legnaro, A. Bygum, J. Tantau

المصدر: Molecular Syndromology. 3:X-X

مصطلحات موضوعية: Optics, business.industry, Genetics, business, Genetics (clinical), Geology, Front (military)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::739301c63019928aeed0a518327681d7
https://doi.org/10.1159/000343387